ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.240A>G (p.Gln80=) (rs377246178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438163 SCV000530843 likely benign not specified 2016-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000711973 SCV000842384 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV001087126 SCV001001097 likely benign Charcot-Marie-Tooth disease axonal type 2F 2019-12-31 criteria provided, single submitter clinical testing

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